Linked Data
ClinVar Variation Id:
189497
dbSNP Id:
rs786204940
gnomAD v2:
10-89623390-C-T
gnomAD v3:
10-87863633-C-T
gnomAD v4:
10-87863633-C-T
ERepo:
CA000604/MONDO:0017623/003
PubMed:
PMID:25669429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863633C>T , CM000672.2:g.87863633C>T | GRCh38 |
| NC_000010.10:g.89623390C>T , CM000672.1:g.89623390C>T | GRCh37 |
| NC_000010.9:g.89613370C>T | NCBI36 |
| NG_007466.2:g.5196C>T , LRG_311:g.5196C>T | |
| NG_033079.1:g.4805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-837C>T (PTEN) | ENSP00000514759.2:n.-837C>T | |
| ENST00000710265.1:c.-837C>T (PTEN) | ENSP00000518161.1:n.-837C>T | |
| ENST00000706954.1:c.-16-821C>T (PTEN) | ENSP00000516674.1:n.-16-821C>T | |
| ENST00000706955.1:c.-837C>T (PTEN) | ENSP00000516675.1:n.-837C>T | |
| ENST00000688158.1:c.-837C>T (PTEN) | ENSP00000509254.1:n.-837C>T | |
| ENST00000688308.1:c.-17+520C>T (PTEN) | ENSP00000508752.1:n.-17+520C>T | |
| ENST00000692337.1:c.75C>T (MLDHR) | ENSP00000509326.1:p.Ser25= | |
| ENST00000693560.1:c.-317C>T (PTEN) | ENSP00000509861.1:n.-317C>T | |
| ENST00000371953.8:c.-837C>T (PTEN) MANE Select | ENSP00000361021.3:n.-837C>T | |
| ENST00000371953.7:c.-837C>T (PTEN) | ENSP00000361021.3:n.-837C>T | |
| ENST00000610634.1:c.-939C>T (PTEN) | ENSP00000477517.1:n.-939C>T | |
| NM_000314.5:c.-836C>T (PTEN) | NP_000305.3:n.-836C>T | |
| NM_000314.6:c.-836C>T (PTEN) | NP_000305.3:n.-836C>T | |
| NM_001304717.2:c.-317C>T (PTEN) | NP_001291646.2:n.-317C>T | |
| NM_001304718.1:c.-1541C>T (PTEN) | NP_001291647.1:n.-1541C>T | |
| NM_000314.7:c.-836C>T (PTEN) | NP_000305.3:n.-836C>T | |
| NM_001304717.5:c.-317C>T (PTEN) | NP_001291646.4:n.-317C>T | |
| NM_001304718.2:c.-1541C>T (PTEN) | NP_001291647.1:n.-1541C>T | |
| NM_000314.8:c.-837C>T (PTEN) MANE Select | NP_000305.3:n.-837C>T |